Mutagenetix > Incidental Mutation

Incidental Mutation 'R5722:Ice1'

452286

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

043340-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R5722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70615100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 173 (E173G)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043493] [ENSMUST00000222568]

AlphaFold

E9Q286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043493
AA Change: E173G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: E173G

Domain	Start	End	E-Value	Type
coiled coil region	22	185	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	338	351	N/A	INTRINSIC
low complexity region	372	378	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC
low complexity region	769	780	N/A	INTRINSIC
low complexity region	946	958	N/A	INTRINSIC
low complexity region	1061	1073	N/A	INTRINSIC
low complexity region	1329	1352	N/A	INTRINSIC
low complexity region	1595	1604	N/A	INTRINSIC
low complexity region	1656	1671	N/A	INTRINSIC
SCOP:d1gw5a_	2026	2223	5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222568

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	A	2: 111,204,123 (GRCm38)	T355S	probably benign	Het
4930432K21Rik	A	G	8: 84,171,844 (GRCm38)	E537G	probably damaging	Het
Actl6a	G	A	3: 32,718,045 (GRCm38)	R164H	probably damaging	Het
Afg3l2	A	G	18: 67,440,199 (GRCm38)	Y178H	probably benign	Het
Agtr1a	A	G	13: 30,382,033 (GRCm38)	*360W	probably null	Het
Arfgef1	A	G	1: 10,138,884 (GRCm38)	V1830A	probably benign	Het
Asic2	A	T	11: 81,967,980 (GRCm38)	S69T	probably benign	Het
Axin1	A	T	17: 26,182,557 (GRCm38)	N368Y	probably damaging	Het
Ces1d	G	A	8: 93,178,128 (GRCm38)	P328L	probably benign	Het
Cndp2	T	A	18: 84,668,078 (GRCm38)	K461*	probably null	Het
Cntnap5c	A	T	17: 58,313,857 (GRCm38)	H977L	probably benign	Het
Fkbpl	G	A	17: 34,645,329 (GRCm38)	A24T	probably benign	Het
Glg1	T	C	8: 111,169,562 (GRCm38)	T177A	possibly damaging	Het
Gm7168	T	C	17: 13,949,562 (GRCm38)	V397A	probably benign	Het
Hif1a	T	A	12: 73,941,759 (GRCm38)	D535E	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Ighmbp2	A	G	19: 3,279,909 (GRCm38)	V115A	probably damaging	Het
Irf2	A	T	8: 46,818,796 (GRCm38)	E101D	possibly damaging	Het
Kat8	G	A	7: 127,924,816 (GRCm38)	E343K	probably damaging	Het
Kyat1	C	T	2: 30,188,111 (GRCm38)	C127Y	probably damaging	Het
Mrgpra4	T	C	7: 47,981,007 (GRCm38)	H282R	probably benign	Het
Npsr1	C	A	9: 24,313,800 (GRCm38)	P368Q	probably damaging	Het
Nwd1	G	A	8: 72,675,244 (GRCm38)	V839M	probably damaging	Het
Olfr430	G	T	1: 174,069,870 (GRCm38)	D191Y	probably damaging	Het
Olfr644	T	A	7: 104,068,723 (GRCm38)	M103L	probably damaging	Het
P4ha3	A	G	7: 100,305,991 (GRCm38)	D351G	probably benign	Het
Pard3b	T	A	1: 62,440,001 (GRCm38)		probably null	Het
Pik3c2b	G	T	1: 133,103,836 (GRCm38)	G1505W	probably damaging	Het
Plppr5	A	T	3: 117,621,065 (GRCm38)	I112L	probably benign	Het
Ptprq	A	G	10: 107,686,365 (GRCm38)	I575T	possibly damaging	Het
Ranbp3l	A	G	15: 9,000,832 (GRCm38)	E46G	probably damaging	Het
Rbm46	A	G	3: 82,865,333 (GRCm38)	V164A	possibly damaging	Het
Sap25	A	G	5: 137,641,451 (GRCm38)	E13G	probably benign	Het
Setbp1	A	T	18: 78,856,645 (GRCm38)	V1269E	possibly damaging	Het
Smgc	T	A	15: 91,841,906 (GRCm38)	S18R	possibly damaging	Het
Snrk	T	C	9: 122,164,006 (GRCm38)	I345T	probably benign	Het
Sp4	T	A	12: 118,299,241 (GRCm38)	I357F	possibly damaging	Het
Sra1	A	G	18: 36,674,978 (GRCm38)	L399P	probably damaging	Het
Stat6	A	G	10: 127,658,373 (GRCm38)	T658A	probably benign	Het
Sv2a	G	A	3: 96,185,023 (GRCm38)	R13H	probably benign	Het
Thoc3	G	T	13: 54,460,201 (GRCm38)	T310N	probably damaging	Het
Tmem8	CGGGG	CGGGGG	17: 26,120,562 (GRCm38)		probably null	Het
Tox3	A	C	8: 90,347,861 (GRCm38)		probably null	Het
Trpc6	A	G	9: 8,680,549 (GRCm38)	E848G	possibly damaging	Het
Ttn	T	C	2: 76,945,968 (GRCm38)	I1577V	probably damaging	Het
Ttn	T	A	2: 76,708,246 (GRCm38)	T34703S	possibly damaging	Het
Ubqln3	G	A	7: 104,141,467 (GRCm38)	P472L	probably benign	Het
Ugt2b36	C	T	5: 87,092,438 (GRCm38)	W29*	probably null	Het
Wdr17	C	T	8: 54,660,771 (GRCm38)		probably null	Het
Zfp790	C	A	7: 29,830,089 (GRCm38)	S733*	probably null	Het

Other mutations in Ice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ice1	APN	13	70,602,289 (GRCm38)	missense	probably damaging	1.00
IGL01155:Ice1	APN	13	70,604,082 (GRCm38)	missense	possibly damaging	0.93
IGL01298:Ice1	APN	13	70,604,904 (GRCm38)	missense	possibly damaging	0.93
IGL01797:Ice1	APN	13	70,623,946 (GRCm38)	missense	probably damaging	1.00
IGL02423:Ice1	APN	13	70,592,599 (GRCm38)	missense	probably damaging	1.00
IGL02583:Ice1	APN	13	70,605,735 (GRCm38)	missense	possibly damaging	0.80
IGL02794:Ice1	APN	13	70,609,159 (GRCm38)	missense	possibly damaging	0.95
IGL02882:Ice1	APN	13	70,624,474 (GRCm38)	splice site	probably benign
IGL02929:Ice1	APN	13	70,596,203 (GRCm38)	missense	probably damaging	1.00
IGL03343:Ice1	APN	13	70,602,929 (GRCm38)	missense	probably damaging	1.00
IGL03384:Ice1	APN	13	70,603,249 (GRCm38)	missense	probably benign	0.00
PIT4651001:Ice1	UTSW	13	70,623,921 (GRCm38)	critical splice donor site	probably null
R0078:Ice1	UTSW	13	70,603,348 (GRCm38)	missense	probably damaging	0.98
R0081:Ice1	UTSW	13	70,619,044 (GRCm38)	nonsense	probably null
R0281:Ice1	UTSW	13	70,604,047 (GRCm38)	missense	possibly damaging	0.64
R0557:Ice1	UTSW	13	70,601,191 (GRCm38)	missense	probably benign	0.08
R0973:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R0973:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R0974:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R1033:Ice1	UTSW	13	70,606,594 (GRCm38)	missense	probably damaging	0.96
R1371:Ice1	UTSW	13	70,596,221 (GRCm38)	missense	probably damaging	1.00
R1525:Ice1	UTSW	13	70,605,410 (GRCm38)	missense	probably benign	0.01
R1539:Ice1	UTSW	13	70,605,904 (GRCm38)	missense	probably damaging	1.00
R1596:Ice1	UTSW	13	70,604,895 (GRCm38)	missense	possibly damaging	0.94
R1603:Ice1	UTSW	13	70,603,353 (GRCm38)	missense	probably benign	0.01
R1680:Ice1	UTSW	13	70,605,448 (GRCm38)	missense	probably benign	0.00
R1737:Ice1	UTSW	13	70,606,325 (GRCm38)	missense	probably damaging	0.99
R1766:Ice1	UTSW	13	70,604,442 (GRCm38)	missense	possibly damaging	0.78
R1774:Ice1	UTSW	13	70,604,553 (GRCm38)	missense	probably damaging	1.00
R1834:Ice1	UTSW	13	70,615,338 (GRCm38)	missense	probably damaging	0.99
R1840:Ice1	UTSW	13	70,606,218 (GRCm38)	missense	probably benign	0.00
R1898:Ice1	UTSW	13	70,602,307 (GRCm38)	missense	possibly damaging	0.83
R1930:Ice1	UTSW	13	70,605,083 (GRCm38)	missense	probably benign	0.18
R2000:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	possibly damaging	0.58
R2106:Ice1	UTSW	13	70,605,622 (GRCm38)	missense	probably benign	0.00
R2293:Ice1	UTSW	13	70,614,957 (GRCm38)	missense	probably damaging	1.00
R2377:Ice1	UTSW	13	70,602,780 (GRCm38)	missense	probably damaging	1.00
R2909:Ice1	UTSW	13	70,596,173 (GRCm38)	missense	probably damaging	1.00
R2965:Ice1	UTSW	13	70,602,578 (GRCm38)	missense	probably benign	0.31
R3730:Ice1	UTSW	13	70,603,240 (GRCm38)	missense	probably damaging	1.00
R3886:Ice1	UTSW	13	70,605,370 (GRCm38)	missense	probably benign	0.00
R3914:Ice1	UTSW	13	70,606,084 (GRCm38)	missense	probably benign	0.30
R4051:Ice1	UTSW	13	70,603,527 (GRCm38)	missense	probably damaging	1.00
R4321:Ice1	UTSW	13	70,603,110 (GRCm38)	missense	possibly damaging	0.83
R4499:Ice1	UTSW	13	70,609,027 (GRCm38)	missense	possibly damaging	0.87
R4729:Ice1	UTSW	13	70,606,384 (GRCm38)	missense	probably damaging	1.00
R5078:Ice1	UTSW	13	70,604,850 (GRCm38)	missense	probably benign
R5431:Ice1	UTSW	13	70,592,650 (GRCm38)	missense	probably damaging	1.00
R5881:Ice1	UTSW	13	70,606,501 (GRCm38)	missense	probably benign	0.04
R5914:Ice1	UTSW	13	70,606,377 (GRCm38)	missense	possibly damaging	0.93
R6171:Ice1	UTSW	13	70,606,731 (GRCm38)	missense	probably benign
R6253:Ice1	UTSW	13	70,603,164 (GRCm38)	missense	probably damaging	1.00
R6274:Ice1	UTSW	13	70,594,839 (GRCm38)	missense	probably damaging	0.97
R6518:Ice1	UTSW	13	70,606,309 (GRCm38)	missense	possibly damaging	0.89
R6665:Ice1	UTSW	13	70,603,473 (GRCm38)	missense	possibly damaging	0.85
R6714:Ice1	UTSW	13	70,615,263 (GRCm38)	splice site	probably null
R6853:Ice1	UTSW	13	70,603,302 (GRCm38)	missense	possibly damaging	0.92
R6917:Ice1	UTSW	13	70,594,894 (GRCm38)	missense	probably damaging	1.00
R7032:Ice1	UTSW	13	70,596,164 (GRCm38)	missense	probably damaging	0.99
R7176:Ice1	UTSW	13	70,624,406 (GRCm38)	critical splice donor site	probably null
R7352:Ice1	UTSW	13	70,606,102 (GRCm38)	nonsense	probably null
R7445:Ice1	UTSW	13	70,596,167 (GRCm38)	missense
R7646:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7647:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7648:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7650:Ice1	UTSW	13	70,605,483 (GRCm38)	missense	probably damaging	1.00
R7650:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7812:Ice1	UTSW	13	70,603,005 (GRCm38)	missense	possibly damaging	0.63
R8061:Ice1	UTSW	13	70,603,732 (GRCm38)	missense	probably damaging	1.00
R8129:Ice1	UTSW	13	70,606,201 (GRCm38)	missense	probably benign	0.02
R8283:Ice1	UTSW	13	70,604,430 (GRCm38)	missense	probably damaging	0.97
R8303:Ice1	UTSW	13	70,606,407 (GRCm38)	missense	probably benign	0.04
R8444:Ice1	UTSW	13	70,604,376 (GRCm38)	missense	probably damaging	1.00
R8474:Ice1	UTSW	13	70,604,447 (GRCm38)	missense	probably benign	0.42
R8751:Ice1	UTSW	13	70,602,891 (GRCm38)	missense	probably damaging	1.00
R8887:Ice1	UTSW	13	70,602,931 (GRCm38)	missense	probably damaging	1.00
R8911:Ice1	UTSW	13	70,592,668 (GRCm38)	missense
R8954:Ice1	UTSW	13	70,610,578 (GRCm38)	missense	probably damaging	1.00
R9345:Ice1	UTSW	13	70,592,639 (GRCm38)	missense
R9438:Ice1	UTSW	13	70,606,315 (GRCm38)	missense	probably benign	0.04
R9452:Ice1	UTSW	13	70,596,343 (GRCm38)	missense	probably damaging	1.00
X0026:Ice1	UTSW	13	70,592,602 (GRCm38)	missense	probably damaging	1.00
Z1176:Ice1	UTSW	13	70,605,201 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCACAGAACCTGCGGCAC -3'
(R):5'- CGGTAAAAGATGCACACGCC -3'

Sequencing Primer
(F):5'- AACCTGCGGCACATGAG -3'
(R):5'- GCCTCACAAGCTATGACTCAGGG -3'

Posted On

2017-01-03